Steroid sulfatase deficiency

disorder

SNOMED 3944006CUI C2720163

Overview

Steroid sulfatase deficiency is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Dry skin

Very frequent (80-99%)HP:0000958

Epidermal hyperkeratosis

Very frequent (80-99%)HP:0000962

Hypohidrosis

Very frequent (80-99%)HP:0000966

Ichthyosiform abnormality of the skin

Very frequent (80-99%)HP:0008064

Childhood attention deficit/hyperactivity disorder

Frequent (30-79%)HP:0007018

Corneal stromal opacity

Frequent (30-79%)HP:0007759

Abnormal vocalization

Occasional (5-29%)HP:0002167

Autism

Occasional (5-29%)HP:0000717

Cryptorchidism

Occasional (5-29%)HP:0000028

Delayed motor milestones

Occasional (5-29%)HP:0001270

Desquamation of skin soon after birth

Occasional (5-29%)HP:0007549

Keratoderma

Occasional (5-29%)HP:0000982

Palmar hyperlinearity

Occasional (5-29%)HP:0033252

Poor school performance

Very rare (1-4%)HP:0001249

Testicular neoplasm

Very rare (1-4%)HP:0010788

Congenital ichthyosiform erythroderma

HP:0007431

Related Conditions

Disorder of steroid metabolism(parent)

X-linked hereditary disease(parent)

Disorder of placental endocrine function(parent)

Deficiency of steryl-sulfatase(parent)

Quick Facts

SNOMED CT: 3944006
UMLS CUI: C2720163
Fully Specified Name: Placental sulfatase deficiency (X-linked steryl-sulfatase deficiency) in a female (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.